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Gene Regulatory Elements

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Gene Regulatory Sequences and Human Disease

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Abstract

While the annotation and functional characterization of the 2% of our genome that encodes for protein has been extremely successful, the remaining 98% still remains primarily uncharted territory. Within this territory reside gene regulatory sequences that instruct genes when, where, and at what levels to turn on or off. There is abundant evidence, as described in this book, that nucleotide and epigenetic changes in these gene regulatory sequences can lead to human disease. In this chapter, we will define the different types of gene regulatory elements (promoters, enhancers, silencers, and insulators) and how to identify and functionally characterize them.

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Abbreviations

BRE:

TFIIB recognition element

Inr:

Initiator element

DPE:

Downstream core promoter element

TBP:

TATA-binding protein

TFIID:

Transcription factor IID

TFIIB:

Transcription factor IIB

TSS:

Transcription start site

TFBS:

Transcription factor binding sites

SHH :

Sonic hedgehog

NIPBL:

Nipped-B homolog

CTCF:

CCCTC-binding factor

LCR:

Locus control region

DHSs:

DNase I hypersensitive sites

ChIP:

Chromatin immunoprecipitation

3C:

Chromatin conformation capture

YAC:

Yeast artificial chromosome

BAC:

Bacterial artificial chromosome

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  1. Department of Bioengineering and Therapeutic Sciences, Institute for Human Genetics, University of California San Francisco, 513 Parnassus Ave., Health Sciences East building, Room HSE901H, 0794, San Francisco, CA, 94143, USA

    Nadav Ahituv

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    Nadav Ahituv

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Ahituv, N. (2012). Gene Regulatory Elements. In: Ahituv, N. (eds) Gene Regulatory Sequences and Human Disease. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1683-8_1

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